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American Journal of Medical Genetics|June 22, 1999
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3G A Bellus, M J Bamshad, K A Przylepa, et al.Genomics|October 27, 1997
Novel genes mapping to the critical region of the 5q- syndromeJ Boultwood, C Fidler, P Soularue, et al.Cytogenetic and Genome Research|February 14, 2003
Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphismsS A Boyadjiev, A B Chowdry, R E Shapiro, et al.Gastroenterology|October 31, 1998
American families with Crohn's disease have strong evidence for linkage to chromosome 16 but not chromosome 12S R Brant, Y Fu, C T Fields, et al.Human Molecular Genetics|January 1, 1997
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2M Oldridge, P W Lunt, E H Zackai, et al.Journal of Medical Genetics|June 21, 2005
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 geneL Van Maldergem, H A Siitonen, N Jalkh, et al.American Journal of Human Genetics|March 3, 1999
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 geneP L Tavormina, G A Bellus, M K Webster, et al.Clinical Genetics|April 29, 2005
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephalyF S Jehee, D Johnson, L G Alonso, et al.Genomics|May 20, 1999
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23S A Boyadjiev, E W Jabs, M LaBuda, et al.Proceedings of the National Academy of Sciences of the United States of America|June 24, 1998
Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: evidence for epistasis between 1p and IBD1J H Cho, D L Nicolae, L H Gold, et al.Pageof 11